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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen, Dong-Hui; Below, Jennifer E; Shimamura, Akiko; Keel, Sioban B; Matsushita, Mark; Wolff, John; Sul, Youngmee; Bonkowski, Emily; Castella, Maria; Taniguchi, Toshiyasu; Nickerson, Deborah; Papayannopoulou, Thalia; Bird, Thomas D; Raskind, Wendy H.
Afiliación
  • Chen DH; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Below JE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Shimamura A; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Hematology, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Fred Hutchinson Cancer Research Center, Seattle, WA 98109,
  • Keel SB; Division of Hematology, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Matsushita M; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Wolff J; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Sul Y; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Bonkowski E; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Castella M; Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
  • Taniguchi T; Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
  • Nickerson D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Papayannopoulou T; Division of Hematology, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Bird TD; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Car
  • Raskind WH; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Care Center, Seattle, WA 98108, USA; Division of Psychiatry and Behavioral Sciences, University o
Am J Hum Genet ; 98(6): 1146-1158, 2016 06 02.
Article en En | MEDLINE | ID: mdl-27259050
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pancitopenia / Proteínas / Ataxia Cerebelosa / Aberraciones Cromosómicas / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pancitopenia / Proteínas / Ataxia Cerebelosa / Aberraciones Cromosómicas / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos